Annotation Detail

Information
Associated Genes
CYP11B2 LOC106799834
Associated Variants
CYP11B2 p.Tyr275= (p.Y275=) ( ENST00000323110.2 )
CYP11B2 p.Tyr275= (p.Y275=) ( ENST00000323110.2 )
Associated Disease
not provided
Source Database
ClinVar
Description
NM_000498.3(CYP11B2):c.825C>T (p.Tyr275=) AND not provided
ClinVar Allele ID
722890
ClinVar RefSeq Alternation Syntax
NM_000498.3:c.825C>T
Clinical Significance Description
Benign/Likely benign
Clinical Significance Last Update
2024-01-31
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000891434
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs